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Davies, E.J. et al.

A dysfunctional allele of the mannose binding protein gene associates with systemic lupus erythematosus in a Spanish population.

OBJECTIVE: To determine dysfunctional mannose binding protein ( MBP) status of Spanish patients with systemic lupus erythematosus ( SLE) and to determine whether MBP and complement C4 null alleles contribute in an additive way to SLE susceptibility. METHODS: The frequencies of MBP alleles (characterized by polymorphisms at codon 54 and codon 57 of exon 1) were determined by the amplification refractory mutation system-polymerase chain reaction in 50 Spanish patients with SLE and 49 matched controls. Mutant genotypes for the codon 54 mutation were confirmed using a Ban I restriction enzyme digest method. Complement C4 allotyping was achieved by agarose gel electrophoresis of neuraminidase/carboxypeptidase B digested plasma samples followed by immunofixation and staining. RESULTS: At least one dysfunctional MBP allele, unable to activate complement, was present in 52% of patients with SLE and in 31% of controls (OR = 2.4, 95% CI 1.1-5.6). Complement C4 null alleles (either C4A or C4B) were present in 61% of patients and 43% of controls (OR = 2.1, 95% CI 0.9-4.9). A dysfunctional MBP allele and C4 null allele were present in 41% of patients and 16% of controls (OR = 3.2, 95% CI 1.2-8.1). CONCLUSION: The presence of a dysfunctional MBP allele is a risk factor for developing SLE in this Spanish population and may affect susceptibility in an additive way with C4 null alleles.[1]

References

A dysfunctional allele of the mannose binding protein gene associates with systemic lupus erythematosus in a Spanish population. Davies, E.J., Teh, L.S., Ordi-Ros, J., Snowden, N., Hillarby, M.C., Hajeer, A., Donn, R., Perez-Pemen, P., Vilardell-Tarres, M., Ollier, W.E. J. Rheumatol. (1997) [Pubmed]

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